|
Hereditary Factor XI Deficiency
|
|
0.810 |
CausalMutation
|
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
CausalMutation
|
CLINVAR |
In vitro comparison of the effect of two factor XI (FXI) concentrates on thrombin generation in major FXI deficiency.
|
26558335 |
2016 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular basis and bleeding manifestations of factor XI deficiency in 11 Turkish families.
|
25158988 |
2015 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).
|
22159456 |
2012 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.
|
21668437 |
2012 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A cluster of factor XI-deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy.
|
21999818 |
2012 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Three dominant-negative mutations in factor XI-deficient patients.
|
21457405 |
2011 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency.
|
22016685 |
2011 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
CausalMutation
|
CLINVAR |
Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency.
|
19652879 |
2009 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
BEFREE |
Factor XI deficiency is a rare autosomal recessive coagulopathy, which is, however, common among Ashkenazi Jews, in whom the so-called type II (E117X) and type III (F283L) mutations account for 98% of alleles.
|
18387979 |
2008 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients.
|
18005151 |
2008 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.
|
16607084 |
2006 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
CausalMutation
|
CLINVAR |
Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.
|
16835901 |
2006 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.
|
15953011 |
2005 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Severe factor XI deficiency caused by compound heterozygosity.
|
15180874 |
2004 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain.
|
15026311 |
2004 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
CausalMutation
|
CLINVAR |
Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain.
|
15026311 |
2004 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.
|
11895778 |
2002 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a novel mutation in a non-Jewish factor XI deficient kindred.
|
10027710 |
1999 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Heterozygous factor XI deficiency associated with three novel mutations.
|
10606881 |
1999 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting.
|
9787168 |
1998 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11.
|
9401068 |
1997 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Six point mutations that cause factor XI deficiency.
|
7888672 |
1995 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of two novel mutations in non-Jewish factor XI deficiency.
|
7669672 |
1995 |
|
Hereditary Factor XI Deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency.
|
1547342 |
1992 |